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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2015 | 1 |
2016 | 1 |
2017 | 2 |
2024 | 0 |
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Page 1
Analysis of large-scale sequencing cohorts does not support the role of variants in UCP2 as a cause of hyperinsulinaemic hypoglycaemia.
Hum Mutat. 2017 Oct;38(10):1442-1444. doi: 10.1002/humu.23289. Epub 2017 Aug 1.
Hum Mutat. 2017.
PMID: 28681398
Free PMC article.
No abstract available.
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.
Cabezas OR, Flanagan SE, Stanescu H, García-Martínez E, Caswell R, Lango-Allen H, Antón-Gamero M, Argente J, Bussell AM, Brandli A, Cheshire C, Crowne E, Dumitriu S, Drynda R, Hamilton-Shield JP, Hayes W, Hofherr A, Iancu D, Issler N, Jefferies C, Jones P, Johnson M, Kesselheim A, Klootwijk E, Koettgen M, Lewis W, Martos JM, Mozere M, Norman J, Patel V, Parrish A, Pérez-Cerdá C, Pozo J, Rahman SA, Sebire N, Tekman M, Turnpenny PD, Hoff WV, Viering DHHM, Weedon MN, Wilson P, Guay-Woodford L, Kleta R, Hussain K, Ellard S, Bockenhauer D.
Cabezas OR, et al.
J Am Soc Nephrol. 2017 Aug;28(8):2529-2539. doi: 10.1681/ASN.2016121312. Epub 2017 Apr 3.
J Am Soc Nephrol. 2017.
PMID: 28373276
Free PMC article.
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Low IgE Is a Useful Tool to Identify STAT3 Gain-of-Function Mutations.
Johnson MB, Flanagan SE, Martins TB, Hill HR, Hattersley AT, McDonald TJ.
Johnson MB, et al.
Clin Chem. 2016 Nov;62(11):1536-1538. doi: 10.1373/clinchem.2016.263624. Epub 2016 Sep 8.
Clin Chem. 2016.
PMID: 27608644
Free PMC article.
No abstract available.
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Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment.
Globa E, Zelinska N, Mackay DJ, Temple KI, Houghton JA, Hattersley AT, Flanagan SE, Ellard S.
Globa E, et al.
J Pediatr Endocrinol Metab. 2015 Nov 1;28(11-12):1279-86. doi: 10.1515/jpem-2015-0170.
J Pediatr Endocrinol Metab. 2015.
PMID: 26208381
Free PMC article.
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